Linked Data
dbSNP Id:
rs747777761
gnomAD v2:
17-76219768-GTTTCAACTGTGCTCTT-G
gnomAD v3:
17-78223687-GTTTCAACTGTGCTCTT-G
gnomAD v4:
17-78223687-GTTTCAACTGTGCTCTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78223688_78223703del , CM000679.2:g.78223688_78223703del | GRCh38 |
| NC_000017.10:g.76219769_76219784del , CM000679.1:g.76219769_76219784del | GRCh37 |
| NC_000017.9:g.73731364_73731379del | NCBI36 |
| NG_029069.1:g.14493_14508del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350051.8:c.*134_*149del MANE Select | ENSP00000324180.4:n.*134_*149del | |
| ENST00000301633.8:c.*134_*149del | ENSP00000301633.3:n.*134_*149del | |
| ENST00000350051.7:c.*134_*149del | ENSP00000324180.4:n.*134_*149del | |
| ENST00000374948.6:c.*31_*46del | ENSP00000364086.1:n.*31_*46del | |
| ENST00000589892.1:n.579_594del | ||
| NM_001012270.1:c.*31_*46del | NP_001012270.1:n.*31_*46del | |
| NM_001012271.1:c.*134_*149del | NP_001012271.1:n.*134_*149del | |
| NM_001168.2:c.*134_*149del | NP_001159.2:n.*134_*149del | |
| XR_243654.3:n.765_780del | ||
| XR_934452.1:n.834_849del | ||
| XR_243654.5:n.765_780del | ||
| XR_934452.3:n.834_849del | ||
| NM_001168.3:c.*134_*149del MANE Select | NP_001159.2:n.*134_*149del | |
| NM_001012270.2:c.*31_*46del | NP_001012270.1:n.*31_*46del | |
| NM_001012271.2:c.*134_*149del | NP_001012271.1:n.*134_*149del |